ClinVar Miner

List of variants in gene POMT2 reported as likely benign for muscular dystrophy-dystroglycanopathy, type A

Included ClinVar conditions (35):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 437
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HGVS dbSNP gnomAD frequency
NM_013382.7(POMT2):c.1183+14A>G rs80099135 0.00613
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) rs141339355 0.00083
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) rs200992827 0.00051
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_013382.7(POMT2):c.1786-18A>G rs193173216 0.00039
NM_013382.7(POMT2):c.2148-17C>G rs201328470 0.00038
NM_013382.7(POMT2):c.1195C>T (p.Pro399Ser) rs200821647 0.00027
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00026
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) rs367552151 0.00017
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_013382.7(POMT2):c.2127G>A (p.Leu709=) rs138142899 0.00016
NM_013382.7(POMT2):c.36C>A (p.Ser12=) rs771074829 0.00014
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_013382.7(POMT2):c.648C>T (p.Cys216=) rs147871747 0.00013
NM_013382.7(POMT2):c.1333-13G>C rs755487607 0.00011
NM_013382.7(POMT2):c.1089C>T (p.Pro363=) rs540688610 0.00009
NM_013382.7(POMT2):c.1786-12A>G rs537415359 0.00009
NM_013382.7(POMT2):c.2033-16C>T rs1004073852 0.00009
NM_013382.7(POMT2):c.439-16T>C rs747572959 0.00008
NM_013382.7(POMT2):c.1887T>G (p.Val629=) rs145942005 0.00007
NM_013382.7(POMT2):c.2032+7G>C rs371121278 0.00007
NM_013382.7(POMT2):c.1484+17T>C rs769039137 0.00006
NM_013382.7(POMT2):c.1726-9A>G rs747493997 0.00006
NM_013382.7(POMT2):c.1785+20C>T rs371727483 0.00006
NM_013382.7(POMT2):c.2112G>A (p.Ala704=) rs548359755 0.00006
NM_013382.7(POMT2):c.657-18C>T rs759654244 0.00006
NM_013382.7(POMT2):c.936C>T (p.Asp312=) rs186690580 0.00006
NM_013382.7(POMT2):c.2148-15G>C rs777010788 0.00005
NM_013382.7(POMT2):c.339G>A (p.Leu113=) rs907279495 0.00005
NM_013382.7(POMT2):c.871C>G (p.Leu291Val) rs764015186 0.00005
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00004
NM_013382.7(POMT2):c.1253+9A>G rs187294379 0.00004
NM_013382.7(POMT2):c.1485-4A>C rs794727127 0.00004
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) rs183828175 0.00004
NM_013382.7(POMT2):c.2013C>T (p.Leu671=) rs751776398 0.00004
NM_013382.7(POMT2):c.2058G>T (p.Arg686=) rs751651828 0.00004
NM_013382.7(POMT2):c.817-18G>A rs200104520 0.00004
NM_013382.7(POMT2):c.817-19C>T rs202191456 0.00004
NM_013382.7(POMT2):c.846T>A (p.Arg282=) rs750579071 0.00004
NM_013382.7(POMT2):c.1290C>T (p.Ala430=) rs886043974 0.00003
NM_013382.7(POMT2):c.1320C>T (p.Thr440=) rs143342682 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.1932G>A (p.Leu644=) rs760608239 0.00003
NM_013382.7(POMT2):c.2040G>A (p.Leu680=) rs951171938 0.00003
NM_013382.7(POMT2):c.248+9T>C rs754261430 0.00003
NM_013382.7(POMT2):c.795C>T (p.Phe265=) rs765276419 0.00003
NM_013382.7(POMT2):c.1029C>T (p.Ile343=) rs758645178 0.00002
NM_013382.7(POMT2):c.1032T>C (p.Thr344=) rs748370238 0.00002
NM_013382.7(POMT2):c.1620G>A (p.Glu540=) rs886043258 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_013382.7(POMT2):c.1786-5C>G rs369026034 0.00002
NM_013382.7(POMT2):c.1977G>C (p.Arg659=) rs746640722 0.00002
NM_013382.7(POMT2):c.2148-6T>A rs1242617887 0.00002
NM_013382.7(POMT2):c.548-17G>A rs775177109 0.00002
NM_013382.7(POMT2):c.548-18C>T rs762471841 0.00002
NM_013382.7(POMT2):c.816+8C>T rs187166139 0.00002
NM_013382.7(POMT2):c.1080C>T (p.His360=) rs776866129 0.00001
NM_013382.7(POMT2):c.1184-14T>C rs199871120 0.00001
NM_013382.7(POMT2):c.1254-7C>T rs753987994 0.00001
NM_013382.7(POMT2):c.1332+14G>A rs750144868 0.00001
NM_013382.7(POMT2):c.1407G>T (p.Val469=) rs886042679 0.00001
NM_013382.7(POMT2):c.1410G>A (p.Leu470=) rs1890394018 0.00001
NM_013382.7(POMT2):c.1484+14G>A rs1263576526 0.00001
NM_013382.7(POMT2):c.1484+9C>G rs760349322 0.00001
NM_013382.7(POMT2):c.1512C>T (p.Cys504=) rs775728269 0.00001
NM_013382.7(POMT2):c.1518A>G (p.Pro506=) rs1380319239 0.00001
NM_013382.7(POMT2):c.1659C>T (p.Asn553=) rs534663839 0.00001
NM_013382.7(POMT2):c.1726-15G>C rs1057524013 0.00001
NM_013382.7(POMT2):c.177C>T (p.Ala59=) rs761956817 0.00001
NM_013382.7(POMT2):c.1786-8C>T rs953851097 0.00001
NM_013382.7(POMT2):c.181C>T (p.Leu61=) rs774150334 0.00001
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=) rs759220971 0.00001
NM_013382.7(POMT2):c.1873C>T (p.Leu625=) rs1393855564 0.00001
NM_013382.7(POMT2):c.1959G>A (p.Pro653=) rs775222771 0.00001
NM_013382.7(POMT2):c.196C>T (p.Leu66=) rs528060377 0.00001
NM_013382.7(POMT2):c.2032+19G>A rs1300533131 0.00001
NM_013382.7(POMT2):c.2033-20G>A rs1057524128 0.00001
NM_013382.7(POMT2):c.2046C>T (p.Asp682=) rs746369367 0.00001
NM_013382.7(POMT2):c.2100C>A (p.Gly700=) rs905496812 0.00001
NM_013382.7(POMT2):c.2147+7A>C rs1472805344 0.00001
NM_013382.7(POMT2):c.2147+9C>T rs1253447533 0.00001
NM_013382.7(POMT2):c.216C>T (p.Arg72=) rs1891833559 0.00001
NM_013382.7(POMT2):c.2250T>C (p.Phe750=) rs1890006083 0.00001
NM_013382.7(POMT2):c.240G>A (p.Pro80=) rs1346021636 0.00001
NM_013382.7(POMT2):c.258G>A (p.Glu86=) rs956763108 0.00001
NM_013382.7(POMT2):c.439-9C>T rs777960032 0.00001
NM_013382.7(POMT2):c.480C>T (p.Tyr160=) rs1202494830 0.00001
NM_013382.7(POMT2):c.486T>C (p.Thr162=) rs766222032 0.00001
NM_013382.7(POMT2):c.547+17A>G rs1485846490 0.00001
NM_013382.7(POMT2):c.548-12C>T rs773717014 0.00001
NM_013382.7(POMT2):c.636G>A (p.Lys212=) rs368906346 0.00001
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00001
NM_013382.7(POMT2):c.69C>T (p.Pro23=) rs527728447 0.00001
NM_013382.7(POMT2):c.762G>T (p.Gly254=) rs1457542706 0.00001
NM_013382.7(POMT2):c.774T>C (p.Ile258=) rs748022643 0.00001
NM_013382.7(POMT2):c.816+13G>A rs1283872799 0.00001
NM_013382.7(POMT2):c.825G>A (p.Val275=) rs779272258 0.00001
NM_013382.7(POMT2):c.84C>T (p.Ala28=) rs771031903 0.00001
NM_013382.7(POMT2):c.891C>A (p.Thr297=) rs769829396 0.00001
NM_013382.7(POMT2):c.924-5C>G rs570851802 0.00001
NM_013382.7(POMT2):c.924-6C>T rs764462802 0.00001
NM_013382.7(POMT2):c.1006+16C>G
NM_013382.7(POMT2):c.1006+9C>T
NM_013382.7(POMT2):c.1007-11C>G
NM_013382.7(POMT2):c.1007-12C>T
NM_013382.7(POMT2):c.1007-13C>G
NM_013382.7(POMT2):c.1007-15C>T
NM_013382.7(POMT2):c.1007-17G>C
NM_013382.7(POMT2):c.1007-20G>A
NM_013382.7(POMT2):c.1007-20G>T
NM_013382.7(POMT2):c.1007-9T>G
NM_013382.7(POMT2):c.1009C>T (p.Leu337=) rs777184206
NM_013382.7(POMT2):c.102C>G (p.Ala34=) rs886044233
NM_013382.7(POMT2):c.1044C>T (p.Leu348=) rs267604062
NM_013382.7(POMT2):c.1056C>T (p.Ile352=)
NM_013382.7(POMT2):c.1071C>G (p.Ser357=)
NM_013382.7(POMT2):c.1074C>T (p.His358=)
NM_013382.7(POMT2):c.1077G>A (p.Arg359=)
NM_013382.7(POMT2):c.1110G>A (p.Gln370=)
NM_013382.7(POMT2):c.1116+10C>T
NM_013382.7(POMT2):c.1116+17T>C
NM_013382.7(POMT2):c.1116+8A>C
NM_013382.7(POMT2):c.1117-11C>T
NM_013382.7(POMT2):c.1117-12C>A rs535647699
NM_013382.7(POMT2):c.1117-12C>T
NM_013382.7(POMT2):c.1117-14C>A
NM_013382.7(POMT2):c.1117-16CCCACCC[3]
NM_013382.7(POMT2):c.1117-17C>G
NM_013382.7(POMT2):c.1117-19G>A
NM_013382.7(POMT2):c.1117-19G>T
NM_013382.7(POMT2):c.1117-7C>A
NM_013382.7(POMT2):c.1117-7C>G rs201921627
NM_013382.7(POMT2):c.1117-7C>T rs201921627
NM_013382.7(POMT2):c.1119C>T (p.Val373=)
NM_013382.7(POMT2):c.1137G>A (p.Lys379=)
NM_013382.7(POMT2):c.1150C>T (p.Leu384=)
NM_013382.7(POMT2):c.1179C>T (p.Asn393=)
NM_013382.7(POMT2):c.1183+11C>T
NM_013382.7(POMT2):c.1183+13G>A rs2140203548
NM_013382.7(POMT2):c.1184-11C>G
NM_013382.7(POMT2):c.1184-12T>A
NM_013382.7(POMT2):c.1184-19G>C
NM_013382.7(POMT2):c.1184-5G>T
NM_013382.7(POMT2):c.1206A>G (p.Pro402=)
NM_013382.7(POMT2):c.1221A>G (p.Arg407=) rs1594787171
NM_013382.7(POMT2):c.1239A>C (p.Arg413=)
NM_013382.7(POMT2):c.1253+13G>T
NM_013382.7(POMT2):c.1253+16del
NM_013382.7(POMT2):c.1254-13_1254-12del rs2140188664
NM_013382.7(POMT2):c.1254-16C>G
NM_013382.7(POMT2):c.1254-6T>G
NM_013382.7(POMT2):c.1254-9A>G rs1594890973
NM_013382.7(POMT2):c.1261C>A (p.Arg421=)
NM_013382.7(POMT2):c.1272C>T (p.His424=) rs1328987547
NM_013382.7(POMT2):c.1293C>T (p.Pro431=)
NM_013382.7(POMT2):c.130C>A (p.Arg44=) rs2139551017
NM_013382.7(POMT2):c.1317C>T (p.Val439=) rs898725472
NM_013382.7(POMT2):c.1332+10C>A
NM_013382.7(POMT2):c.1332+10del
NM_013382.7(POMT2):c.1332+12A>G
NM_013382.7(POMT2):c.1332+17G>A
NM_013382.7(POMT2):c.1332+19T>C
NM_013382.7(POMT2):c.1332+20G>A
NM_013382.7(POMT2):c.1332+6_1332+9del rs781093215
NM_013382.7(POMT2):c.1333-16T>C
NM_013382.7(POMT2):c.1333-17C>A
NM_013382.7(POMT2):c.1333-6T>C
NM_013382.7(POMT2):c.1350A>T (p.Ser450=) rs750632019
NM_013382.7(POMT2):c.135T>A (p.Pro45=) rs1891844737
NM_013382.7(POMT2):c.1371G>A (p.Glu457=)
NM_013382.7(POMT2):c.1374C>T (p.Val458=)
NM_013382.7(POMT2):c.138T>C (p.Ala46=)
NM_013382.7(POMT2):c.1396C>A (p.Arg466=) rs763119319
NM_013382.7(POMT2):c.1452C>T (p.Val484=)
NM_013382.7(POMT2):c.1453C>T (p.Leu485=)
NM_013382.7(POMT2):c.1461C>T (p.Ser487=)
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) rs375698520
NM_013382.7(POMT2):c.1464G>T (p.Ser488=)
NM_013382.7(POMT2):c.1479C>T (p.Pro493=) rs769462000
NM_013382.7(POMT2):c.1482G>A (p.Lys494=)
NM_013382.7(POMT2):c.1484+13G>A
NM_013382.7(POMT2):c.1484+19G>T
NM_013382.7(POMT2):c.1484+7C>T
NM_013382.7(POMT2):c.1485-14T>C
NM_013382.7(POMT2):c.1485-20G>A
NM_013382.7(POMT2):c.1494G>A (p.Glu498=)
NM_013382.7(POMT2):c.1527A>G (p.Lys509=)
NM_013382.7(POMT2):c.1536C>T (p.Leu512=)
NM_013382.7(POMT2):c.1539C>T (p.Asn513=)
NM_013382.7(POMT2):c.153C>T (p.Arg51=)
NM_013382.7(POMT2):c.1576+13A>G
NM_013382.7(POMT2):c.1576+14C>T
NM_013382.7(POMT2):c.1576+20G>A
NM_013382.7(POMT2):c.1577-19C>T
NM_013382.7(POMT2):c.1577-7C>T
NM_013382.7(POMT2):c.1577-8T>C
NM_013382.7(POMT2):c.1577-8del rs749856419
NM_013382.7(POMT2):c.1593G>C (p.Leu531=)
NM_013382.7(POMT2):c.1599G>A (p.Val533=) rs768426838
NM_013382.7(POMT2):c.162G>C (p.Ala54=) rs2270420
NM_013382.7(POMT2):c.1635C>T (p.Ser545=)
NM_013382.7(POMT2):c.1638C>T (p.His546=) rs2140179482
NM_013382.7(POMT2):c.1653+10C>T
NM_013382.7(POMT2):c.1653+11C>A
NM_013382.7(POMT2):c.1653+14T>C
NM_013382.7(POMT2):c.1653+17C>T rs1268392742
NM_013382.7(POMT2):c.1653+20T>G
NM_013382.7(POMT2):c.1654-11C>T
NM_013382.7(POMT2):c.1654-12A>G
NM_013382.7(POMT2):c.1654-15G>C
NM_013382.7(POMT2):c.1654-5T>C rs1594885955
NM_013382.7(POMT2):c.1654-6A>C
NM_013382.7(POMT2):c.1668C>G (p.Leu556=)
NM_013382.7(POMT2):c.1671A>G (p.Lys557=)
NM_013382.7(POMT2):c.1674C>T (p.Pro558=)
NM_013382.7(POMT2):c.1713T>C (p.Pro571=)
NM_013382.7(POMT2):c.1725+11A>G
NM_013382.7(POMT2):c.1725+14C>G
NM_013382.7(POMT2):c.1725+15T>C
NM_013382.7(POMT2):c.1725+17G>A
NM_013382.7(POMT2):c.1725+18G>C
NM_013382.7(POMT2):c.1725+19G>A
NM_013382.7(POMT2):c.1725+8C>G
NM_013382.7(POMT2):c.1726-11C>G
NM_013382.7(POMT2):c.1726-11C>T
NM_013382.7(POMT2):c.1726-19G>T rs530158780
NM_013382.7(POMT2):c.1726-20G>A
NM_013382.7(POMT2):c.1726-8T>C
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.1740A>C (p.Ser580=)
NM_013382.7(POMT2):c.1746C>A (p.Val582=)
NM_013382.7(POMT2):c.1749T>C (p.Asn583=) rs1416940075
NM_013382.7(POMT2):c.1767C>G (p.Val589=)
NM_013382.7(POMT2):c.1776T>G (p.Leu592=)
NM_013382.7(POMT2):c.1782C>T (p.Asn594=)
NM_013382.7(POMT2):c.1785+15A>G
NM_013382.7(POMT2):c.1785+17T>G
NM_013382.7(POMT2):c.1785+6dup
NM_013382.7(POMT2):c.1785+7G>A
NM_013382.7(POMT2):c.1785+8C>T
NM_013382.7(POMT2):c.1786-15C>G
NM_013382.7(POMT2):c.1786-4A>G
NM_013382.7(POMT2):c.1786-7T>C
NM_013382.7(POMT2):c.1800G>C (p.Leu600=)
NM_013382.7(POMT2):c.1800G>T (p.Leu600=) rs757165656
NM_013382.7(POMT2):c.1803T>C (p.Asn601=)
NM_013382.7(POMT2):c.180G>C (p.Leu60=)
NM_013382.7(POMT2):c.1815C>T (p.Ile605=)
NM_013382.7(POMT2):c.1818C>T (p.Ala606=)
NM_013382.7(POMT2):c.1839C>T (p.Ser613=) rs1400122508
NM_013382.7(POMT2):c.1854C>G (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1854C>T (p.Ala618=) rs1407950406
NM_013382.7(POMT2):c.1875G>C (p.Leu625=)
NM_013382.7(POMT2):c.1891+12T>G
NM_013382.7(POMT2):c.1891+13G>A rs2140166262
NM_013382.7(POMT2):c.1891+14G>A
NM_013382.7(POMT2):c.1891+15G>T
NM_013382.7(POMT2):c.1891+16C>T
NM_013382.7(POMT2):c.1892-14C>G
NM_013382.7(POMT2):c.1892-15G>A
NM_013382.7(POMT2):c.1892-16T>C
NM_013382.7(POMT2):c.1892-5C>T
NM_013382.7(POMT2):c.1902G>A (p.Gln634=) rs1594883867
NM_013382.7(POMT2):c.1908G>A (p.Leu636=)
NM_013382.7(POMT2):c.1909C>T (p.Leu637Phe) rs2140162404
NM_013382.7(POMT2):c.1917A>G (p.Gly639=)
NM_013382.7(POMT2):c.1926G>A (p.Gln642=)
NM_013382.7(POMT2):c.1935C>A (p.Leu645=) rs141193672
NM_013382.7(POMT2):c.1944A>C (p.Thr648=)
NM_013382.7(POMT2):c.1953C>T (p.Tyr651=)
NM_013382.7(POMT2):c.1959G>T (p.Pro653=)
NM_013382.7(POMT2):c.1983C>T (p.Leu661=) rs1057523411
NM_013382.7(POMT2):c.1986C>T (p.Tyr662=)
NM_013382.7(POMT2):c.198G>C (p.Leu66=)
NM_013382.7(POMT2):c.1992C>T (p.His664=) rs143329994
NM_013382.7(POMT2):c.1995C>T (p.His665=)
NM_013382.7(POMT2):c.1998C>T (p.Tyr666=)
NM_013382.7(POMT2):c.2004A>C (p.Pro668=) rs750930174
NM_013382.7(POMT2):c.2032+14A>C
NM_013382.7(POMT2):c.2032+15C>T rs1380951819
NM_013382.7(POMT2):c.2032+19G>T rs1300533131
NM_013382.7(POMT2):c.2032+20_2032+25del
NM_013382.7(POMT2):c.2032+8C>T
NM_013382.7(POMT2):c.2033-11C>T
NM_013382.7(POMT2):c.2033-14C>G
NM_013382.7(POMT2):c.2033-14C>T
NM_013382.7(POMT2):c.2033-15T>C
NM_013382.7(POMT2):c.2033-18T>C
NM_013382.7(POMT2):c.2033-7C>A
NM_013382.7(POMT2):c.2034C>T (p.Gly678=)
NM_013382.7(POMT2):c.2049C>T (p.Thr683=)
NM_013382.7(POMT2):c.2055G>A (p.Leu685=)
NM_013382.7(POMT2):c.2061C>T (p.Leu687=)
NM_013382.7(POMT2):c.2074T>C (p.Leu692=)
NM_013382.7(POMT2):c.2079C>T (p.Ala693=)
NM_013382.7(POMT2):c.2082A>C (p.Ser694=)
NM_013382.7(POMT2):c.2082A>G (p.Ser694=)
NM_013382.7(POMT2):c.2082A>T (p.Ser694=)
NM_013382.7(POMT2):c.2088C>T (p.Pro696=)
NM_013382.7(POMT2):c.2094G>A (p.Ala698=)
NM_013382.7(POMT2):c.2121G>A (p.Leu707=)
NM_013382.7(POMT2):c.2121G>C (p.Leu707=)
NM_013382.7(POMT2):c.2130C>T (p.Leu710=)
NM_013382.7(POMT2):c.213C>T (p.Thr71=)
NM_013382.7(POMT2):c.2142C>A (p.Ala714=)
NM_013382.7(POMT2):c.2142C>T (p.Ala714=)
NM_013382.7(POMT2):c.2145C>T (p.Tyr715=)
NM_013382.7(POMT2):c.2147+10T>G
NM_013382.7(POMT2):c.2147+13G>A
NM_013382.7(POMT2):c.2147+14C>T
NM_013382.7(POMT2):c.2147+15A>G
NM_013382.7(POMT2):c.2148-14G>A
NM_013382.7(POMT2):c.2148-20C>T
NM_013382.7(POMT2):c.2151C>T (p.Phe717=)
NM_013382.7(POMT2):c.2163C>T (p.His721=)
NM_013382.7(POMT2):c.2166T>C (p.Pro722=)
NM_013382.7(POMT2):c.2190C>T (p.Pro730=)
NM_013382.7(POMT2):c.219C>T (p.Phe73=)
NM_013382.7(POMT2):c.2205C>A (p.Pro735=)
NM_013382.7(POMT2):c.2214A>G (p.Pro738=) rs2140156918
NM_013382.7(POMT2):c.2241A>G (p.Ser747=)
NM_013382.7(POMT2):c.2241A>T (p.Ser747=) rs751053480
NM_013382.7(POMT2):c.231C>T (p.Asp77=) rs1378921614
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_013382.7(POMT2):c.234G>A (p.Glu78=)
NM_013382.7(POMT2):c.248+13A>C
NM_013382.7(POMT2):c.249-11G>A
NM_013382.7(POMT2):c.249-15C>T
NM_013382.7(POMT2):c.249-16T>C
NM_013382.7(POMT2):c.249-18T>C
NM_013382.7(POMT2):c.249-19C>G
NM_013382.7(POMT2):c.249-19C>T
NM_013382.7(POMT2):c.249-8dup rs1891454173
NM_013382.7(POMT2):c.261T>C (p.Thr87=)
NM_013382.7(POMT2):c.270A>C (p.Gly90=)
NM_013382.7(POMT2):c.288T>C (p.Tyr96=) rs2139518411
NM_013382.7(POMT2):c.297T>C (p.Arg99=)
NM_013382.7(POMT2):c.318C>T (p.His106=) rs2139518201
NM_013382.7(POMT2):c.321G>A (p.Pro107=) rs756802962
NM_013382.7(POMT2):c.324C>T (p.Pro108=)
NM_013382.7(POMT2):c.333+10G>A
NM_013382.7(POMT2):c.333+18T>A
NM_013382.7(POMT2):c.334-13C>A
NM_013382.7(POMT2):c.334-16G>A
NM_013382.7(POMT2):c.334-8C>G
NM_013382.7(POMT2):c.33G>A (p.Glu11=) rs776638993
NM_013382.7(POMT2):c.369T>C (p.Tyr123=)
NM_013382.7(POMT2):c.36C>T (p.Ser12=) rs771074829
NM_013382.7(POMT2):c.382T>C (p.Leu128=)
NM_013382.7(POMT2):c.393G>A (p.Lys131=)
NM_013382.7(POMT2):c.399G>A (p.Gly133=)
NM_013382.7(POMT2):c.411G>A (p.Glu137=)
NM_013382.7(POMT2):c.438+12T>A rs2139500656
NM_013382.7(POMT2):c.438+16T>C
NM_013382.7(POMT2):c.438+16T>G
NM_013382.7(POMT2):c.439-18del
NM_013382.7(POMT2):c.439-6C>T
NM_013382.7(POMT2):c.447A>G (p.Ala149=)
NM_013382.7(POMT2):c.450C>T (p.Phe150=)
NM_013382.7(POMT2):c.471C>T (p.Pro157=)
NM_013382.7(POMT2):c.477C>G (p.Ala159=)
NM_013382.7(POMT2):c.513G>A (p.Ser171=)
NM_013382.7(POMT2):c.51G>A (p.Arg17=) rs1891853487
NM_013382.7(POMT2):c.543C>T (p.Thr181=) rs2139493837
NM_013382.7(POMT2):c.547+10C>T
NM_013382.7(POMT2):c.547+12T>C
NM_013382.7(POMT2):c.547+16del
NM_013382.7(POMT2):c.548-14C>T
NM_013382.7(POMT2):c.548-16A>G
NM_013382.7(POMT2):c.548-9G>A rs1891100155
NM_013382.7(POMT2):c.54G>A (p.Arg18=)
NM_013382.7(POMT2):c.552G>A (p.Thr184=)
NM_013382.7(POMT2):c.564T>C (p.Thr188=)
NM_013382.7(POMT2):c.567G>A (p.Leu189=) rs780313126
NM_013382.7(POMT2):c.591C>T (p.Pro197=)
NM_013382.7(POMT2):c.594C>T (p.Ile198=)
NM_013382.7(POMT2):c.595C>T (p.Leu199=)
NM_013382.7(POMT2):c.60C>A (p.Arg20=)
NM_013382.7(POMT2):c.624G>A (p.Leu208=)
NM_013382.7(POMT2):c.627C>T (p.Ser209=)
NM_013382.7(POMT2):c.639C>T (p.Tyr213=)
NM_013382.7(POMT2):c.645T>C (p.Ser215=)
NM_013382.7(POMT2):c.654C>T (p.Asp218=)
NM_013382.7(POMT2):c.656+10T>A
NM_013382.7(POMT2):c.656+17C>T
NM_013382.7(POMT2):c.656+18C>T
NM_013382.7(POMT2):c.656+19G>A
NM_013382.7(POMT2):c.656+20G>T
NM_013382.7(POMT2):c.656+9C>G
NM_013382.7(POMT2):c.657-14T>A
NM_013382.7(POMT2):c.657-15C>T
NM_013382.7(POMT2):c.657-17G>A
NM_013382.7(POMT2):c.657-18C>A
NM_013382.7(POMT2):c.657-18_657-15del
NM_013382.7(POMT2):c.657-20T>G rs1032925016
NM_013382.7(POMT2):c.657-4T>G
NM_013382.7(POMT2):c.657-4del rs777481709
NM_013382.7(POMT2):c.657-7dup rs777481709
NM_013382.7(POMT2):c.657-9G>C rs1359971151
NM_013382.7(POMT2):c.717T>G (p.Ala239=)
NM_013382.7(POMT2):c.741C>G (p.Leu247=)
NM_013382.7(POMT2):c.768C>T (p.Asn256=)
NM_013382.7(POMT2):c.780C>T (p.Asp260=) rs2139480330
NM_013382.7(POMT2):c.790C>T (p.Leu264=)
NM_013382.7(POMT2):c.814T>C (p.Leu272=)
NM_013382.7(POMT2):c.816+14G>C
NM_013382.7(POMT2):c.817-10C>G rs942797478
NM_013382.7(POMT2):c.817-14G>C
NM_013382.7(POMT2):c.817-20A>G rs1566655273
NM_013382.7(POMT2):c.843T>G (p.Ala281=)
NM_013382.7(POMT2):c.849C>T (p.Val283=)
NM_013382.7(POMT2):c.855C>T (p.Cys285=)
NM_013382.7(POMT2):c.870C>T (p.Pro290=)
NM_013382.7(POMT2):c.879C>G (p.Leu293=) rs2139473776
NM_013382.7(POMT2):c.87A>G (p.Ala29=)
NM_013382.7(POMT2):c.87A>T (p.Ala29=) rs794726937
NM_013382.7(POMT2):c.894T>C (p.Phe298=)
NM_013382.7(POMT2):c.903C>T (p.His301=)
NM_013382.7(POMT2):c.90C>G (p.Gly30=)
NM_013382.7(POMT2):c.923+12G>A
NM_013382.7(POMT2):c.923+12G>T
NM_013382.7(POMT2):c.923+19C>A
NM_013382.7(POMT2):c.923+20A>G
NM_013382.7(POMT2):c.923+7A>G rs2139473467
NM_013382.7(POMT2):c.923+8C>T
NM_013382.7(POMT2):c.923+8_923+11del rs1272206712
NM_013382.7(POMT2):c.924-12C>G
NM_013382.7(POMT2):c.924-12C>T
NM_013382.7(POMT2):c.924-16C>T
NM_013382.7(POMT2):c.924-4A>G
NM_013382.7(POMT2):c.924-5C>A
NM_013382.7(POMT2):c.924-7C>T
NM_013382.7(POMT2):c.927C>T (p.Gly309=)
NM_013382.7(POMT2):c.981C>T (p.Asn327=) rs747147327
NM_013382.7(POMT2):c.990T>C (p.Asn330=)

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